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Rare Diseases under letter "O"
OA-1 ↗ OAV dysplasia ↗ OAV spectrum ↗ Oberklaid-Danks syndrome ↗ Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay ↗ Obesity due MC3R deficiency ↗ Obesity due to congenital leptin deficiency ↗ Obesity due to leptin receptor gene deficiency ↗ Obesity due to melanocortin-4 receptor deficiency ↗ Obesity due to prohormone convertase-I deficiency ↗ Obesity due to pro-opiomelanocortin deficiency ↗ Obliterative portal venopathy ↗ OCA ↗ OCA-1A ↗ OCA-1B ↗ OCA-2 ↗ OCA-3 ↗ OCA-4 ↗ Occipital atretic cephalocele - unusual facies - large feet ↗ Occipital encephalocele ↗ Occipital horn syndrome ↗ Occipital malformations of cortical development ↗ Occipital MCD ↗ Occipital pachygyria and polymicrogyria ↗ Occlusive infantile arteriopathy ↗ OCCS ↗ Occult macular dystrophy ↗ Occult spinal dysraphism ↗ Occupational allergic alveolitis ↗ Ochoa syndrome ↗ OCR ↗ OCRL ↗ OCT deficiency ↗ Ocular albinism - late-onset sensorineural deafness ↗ Ocular albinism, Nettleship-Falls type ↗ Ocular albinism type 1 ↗ Ocular coloboma - imperforate anus ↗ Ocular form of osteogenesis imperfecta ↗ Ocular motor apraxia, Cogan type ↗ Ocular pemphigoid ↗ Oculoauricular syndrome, Schorderet type ↗ Oculo-auriculo-fronto-nasal syndrome ↗ Oculoauriculovertebral dysplasia ↗ Oculo-auriculo-vertebral spectrum ↗ Oculoauriculovertebral spectrum with radial defects ↗ Oculocerebral dysplasia ↗ Oculocerebral hypopigmentation syndrome, Cross type ↗ Oculocerebral hypopigmentation syndrome, Preus type ↗ Oculo-cerebro-acral syndrome ↗ Oculocerebrocutaneous syndrome ↗ Oculocerebrofacial syndrome, Kaufman type ↗ Oculo-cerebro-osseous syndrome ↗ Oculocerebrorenal dystrophy ↗ Oculo-cerebro-renal dystrophy ↗ Oculocerebrorenal syndrome ↗ Oculo-cerebro-renal syndrome ↗ Oculocutaneous albinism ↗ Oculocutaneous albinism type 1A ↗ Oculocutaneous albinism type 1B ↗ Oculocutaneous albinism type 2 ↗ Oculocutaneous albinism type 3 ↗ Oculocutaneous albinism type 4 ↗ Oculocutaneous albinism type Amish ↗ Oculocutaneous tyrosinemia ↗ Oculodental syndrome, Rutherfurd type ↗ Oculodentodigital dysplasia ↗ Oculodentoosseous dysplasia ↗ Oculo digital syndrome ↗ Oculo-digito-esophageal-duodenal syndrome ↗ Oculoectodermal syndrome ↗ Oculofaciocardiodental syndrome ↗ Oculogastrointestinal muscular dystrophy ↗ Oculomaxillofacial dysostosis ↗ Oculomelic amyoplasia ↗ Oculoosteocutaneous syndrome ↗ Oculootodental syndrome ↗ Oculo-oto-facial dysplasia ↗ Oculo-oto-radial syndrome ↗ Oculo-palato-cerebral dwarfism ↗ Oculo-palato-cerebral syndrome ↗ Oculopalatoskeletal syndrome ↗ Oculopharyngeal muscular dystrophy ↗ Oculopharyngodistal myopathy ↗ Oculo-reno-cerebellar syndrome ↗ Oculo-skeletal-abdominal syndrome ↗ Oculo-skeletal-renal syndrome ↗ Oculotrichoanal syndrome ↗ Oculotrichodysplasia ↗ ODDD syndrome ↗ ODED syndrome ↗ O'Doherty syndrome ↗ O Donnell-Pappas syndrome ↗ Odontochondrodysplasia ↗ Odontohypophosphatasia ↗ Odontoleukodystrophy ↗ Odontomatosis - aortae esophagus stenosis ↗ Odontomicronychial dysplasia ↗ Odonto-onycho-dermal dysplasia ↗ Odonto-onycho dysplasia - alopecia ↗ Odontotrichomelic syndrome ↗ Odonto-tricho-ungual-digito-palmar syndrome ↗ Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type ↗ ODP ↗ OEIS complex ↗ Oerter-Friedman-Anderson syndrome ↗ OFCD syndrome ↗ OFC syndrome ↗ OFD1 ↗ OFD10 ↗ OFD11 ↗ OFD2 ↗ OFD3 ↗ OFD4 ↗ OFD5 ↗ OFD6 ↗ OFD7 ↗ OFD8 ↗ OFD9 ↗ Oguchi disease ↗ Oguchi's disease ↗ Oguchi's syndrome ↗ Ohaha syndrome ↗ Ohdo blepharophimosis syndrome ↗ Ohdo-Madokoro-Sonoda syndrome ↗ Ohdo syndrome ↗ OHSS ↗ Ohtahara syndrome ↗ OI ↗ OI type 1 ↗ OI type 2 ↗ OI type 3 ↗ OI type 4 ↗ OI type 5 ↗ Okamoto syndrome ↗ Okihiro syndrome ↗ Okihiro syndrome due to 20q13 microdeletion ↗ Okihiro syndrome due to a point mutation ↗ Okihiro syndrome due to del(20)(q13) ↗ Okihiro syndrome due to monosomy 20q13 ↗ OL-EDA-ID ↗ Olfactory neuroblastoma ↗ Oligoarticular juvenile arthritis ↗ Oligoarticular juvenile arthritis with anti-nuclear antibodies ↗ Oligoarticular juvenile arthritis without anti-nuclear antibodies ↗ Oligoastrocytoma ↗ Oligocone syndrome ↗ Oligocone trichromacy ↗ Oligodendroglial tumor ↗ Oligodendroglioma ↗ Oligodontia ↗ Oligomeganephronia ↗ Oligomeganephronic renal hypoplasia ↗ Oliver-McFarlane syndrome ↗ Oliver syndrome ↗ Olivopontocerebellar atrophy - deafness ↗ Ollier disease ↗ Olmsted syndrome ↗ OMD ↗ Omenn syndrome ↗ OMM syndrome ↗ Omodysplasia ↗ Omphalocele ↗ Omphalocele - cloacal exstrophy - imperforate anus - spinal defect ↗ Omphalocele syndrome, Shprintzen-Goldberg type ↗ Omphalomesenteric cyst ↗ Onat syndrome ↗ Onchocerciasis ↗ Oncocytic cardiomyopathy ↗ Ondine-Hirschsprung disease ↗ Ondine-Hirschsprung syndrome ↗ Ondine syndrome ↗ ONMR syndrome ↗ onycho-digito-mammary syndrome ↗ Onychodystrophy - deafness ↗ Onychodystrophy totalis ↗ Onychoosteodysplasia ↗ Onycho-tricho-dysplasia - neutropenia ↗ Oochs syndrome ↗ OOD ↗ OPA2 ↗ OPA3, autosomal dominant ↗ Open iniencephaly ↗ Ophthalmic ichthyosis ↗ Ophthalmoacromelic syndrome ↗ Ophthalmomandibulomelic dysplasia ↗ Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis ↗ Ophthalmoplegia - intellectual deficit - lingua scrotalis ↗ Ophthalmoplegia - myalgia - tubular aggregates ↗ Opitz BBB/G syndrome ↗ Opitz-Caltabiano syndrome ↗ Opitz-Frias syndrome ↗ Opitz-Reynolds-FitzGerald syndrome ↗ Opitz trigonocephaly-like syndrome ↗ Opitz trigonocephaly syndrome ↗ OPMD ↗ Oppenheim's dystonia ↗ OPPG ↗ Opsismodysplasia ↗ Opsoclonus-myoclonus syndrome ↗ Optic atrophy ↗ Optic atrophy - deafness- polyneuropathy - myopathy ↗ Optic atrophy - ophthalmoplegia - ptosis - deafness - myopathy ↗ Optic atrophy plus syndrome ↗ Optic atrophy type 2 ↗ Optic pathway glioma ↗ Oral erosive lichen ↗ Oral-facial-digital syndrome ↗ Oral-facial-digital syndrome, Gabrielli type ↗ Oral-facial-digital syndrome type 1 ↗ Oral-facial-digital syndrome type 10 ↗ Oral-facial-digital syndrome type 11 ↗ Oral-facial-digital syndrome type 2 ↗ Oral-facial-digital syndrome type 3 ↗ Oral-facial-digital syndrome type 4 ↗ Oral-facial-digital syndrome type 5 ↗ Oral-facial-digital syndrome type 6 ↗ Oral-facial-digital syndrome type 7 ↗ Oral-facial-digital syndrome type 8 ↗ Oral-facial-digital syndrome type 9 ↗ Oral-facial-digital syndrome with retinal abnormalities ↗ Oral-facial dyskinesia ↗ Orbital cyst with cerebral and focal dermal malformations ↗ Orbital leiomyoma ↗ Orbital medulloepithelioma ↗ Organic early-onset schizophrenia ↗ Ormond's disease ↗ Ornithine aminotransferase deficiency ↗ Ornithine carbamoyltransferase deficiency ↗ Ornithine transcarbamylase deficiency ↗ Oroacral syndrome ↗ Orocraniodigital syndrome ↗ Orofaciodigital syndrome ↗ Orofaciodigital syndrome, Gabrielli type ↗ Orofaciodigital syndrome, Thurston type ↗ Orofaciodigital syndrome type 1 ↗ Orofaciodigital syndrome type 10 ↗ Orofaciodigital syndrome type 11 ↗ Orofaciodigital syndrome type 2 ↗ Orofaciodigital syndrome type 3 ↗ Orofaciodigital syndrome type 4 ↗ Orofaciodigital syndrome type 5 ↗ Orofaciodigital syndrome type 6 ↗ Orofaciodigital syndrome type 7 ↗ Orofaciodigital syndrome type 8 ↗ Orofaciodigital syndrome type 9 ↗ Orofaciodigital syndrome with fibular aplasia ↗ Orofaciodigital syndrome with retinal abnormalities ↗ Oromandibular dystonia ↗ Oro-mandibular-limb hypogenesis syndrome ↗ Oropharyngeal teratoma ↗ Oroticaciduria ↗ Orotidylic decarboxylase deficiency ↗ Oroya fever ↗ OSA syndrome ↗ Osebold-Remondini syndrome ↗ Osgood-Schlatter disease ↗ OSLAM syndrome ↗ Osler-Vaquez disease ↗ OSMED ↗ Osseous vascular malformation ↗ Ossification anomalies - psychomotor development delay ↗ Osteoblastoma ↗ Osteochondritis dissecans and short stature ↗ Osteochondritis of phalangeal epiphyses ↗ Osteochondritis of tarsal/metatarsal bone ↗ Osteochondritis of the capital femoral epiphysis ↗ Osteochondritis of the lunate bone ↗ Osteochondritis of the tibial tubercle ↗ Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa ↗ Osteochondrodysplatic nanism - deafness - retinitis pigmentosa ↗ Osteo-chondro-muscular dystrophy ↗ Osteochondrosis deformans tibiae ↗ Osteochondrosis of patella ↗ Osteochondrosis of phalangeal epiphyses ↗ Osteochondrosis of the capital femoral epiphysis ↗ Osteochondrosis of the capital humerus ↗ Osteochondrosis of the lunate bone ↗ Osteochondrosis of the tarsal bone ↗ Osteochondrosis of the tibial tubercle ↗ Osteocraniosplenic syndrome ↗ Osteocraniostenosis ↗ Osteodysplasty, Melnick-Needles type ↗ Osteofibrous dysplasia ↗ Osteogenesis imperfecta ↗ Osteogenesis imperfecta - congenital joint contractures ↗ Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit ↗ Osteogenesis imperfecta - shortened long bones - white sclerae ↗ Osteogenesis imperfecta type 1 ↗ Osteogenesis imperfecta type 2 ↗ Osteogenesis imperfecta type 3 ↗ Osteogenesis imperfecta type 4 ↗ Osteogenesis imperfecta type 5 ↗ Osteogenic sarcoma ↗ Osteoglophonic dwarfism ↗ Osteolysis hereditary multicentric ↗ Osteomesopyknosis ↗ Osteopathia striata - cranial sclerosis ↗ Osteopathia striata - pigmentary dermopathy - white forelock ↗ Osteopenia - intellectual deficit - sparse hair ↗ Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism ↗ Osteopetrosis autosomal dominant type 2 ↗ Osteopetrosis - hypogammaglobulinemia ↗ Osteopetrosis with renal tubular acidosis ↗ Osteopoikilosis - short stature - intellectual deficit ↗ Osteoporosis - macrocephaly - blindness - joint hyperlaxity ↗ Osteoporosis-oculocutaneous-hypopigmentation syndrome ↗ Osteoporosis - pseudoglioma ↗ Osteopsathyrosis ↗ Osteosarcoma ↗ Osteosarcoma - limb anomalies - erythroid macrocytosis ↗ Osteosclerosis - developmental delay - craniosynostosis ↗ Osteosclerosis - ichthyosis - premature ovarian failure ↗ Osteosclerotic myeloma ↗ Ostravik-Lindemann-Solberg syndrome ↗ O'Sullivan-McLeod syndrome ↗ OTC deficency ↗ Otodental dysplasia ↗ Otodental syndrome ↗ Otofaciocervical syndrome ↗ Otomandibular dysostosis ↗ Otomandibular syndrome ↗ Oto-onycho-peroneal syndrome ↗ Otopalatodigital syndrome ↗ Otopalatodigital syndrome type 1 ↗ Otopalatodigital syndrome type 2 ↗ Otospondylomegaepiphyseal dysplasia ↗ OTUDP syndrome ↗ Ouvrier-Billson syndrome ↗ Ovarian adenocarcinoma ↗ Ovarian cancer of sex cord-stromal origin ↗ Ovarian carcinosarcoma ↗ Ovarian germ cell cancer ↗ Ovarian germ cell malignant tumor ↗ Ovarian gonadoblastoma ↗ Ovarian hyperstimulation syndrome ↗ Ovarian malignant Sertoli-Leydig cell tumor ↗ Ovarian malignant tumor of sex cord-stromal origin ↗ Ovarian Sertoli-Leydig cell cancer ↗ Ovarian tumor of low malignant potential ↗ Ovarioleukodystrophy ↗ Overgrowth - craniosynostosis - arthrogryposis ↗ Overhydrated hereditary stomatocytosis ↗ Overlap myositis ↗ Ovotesticular disorder of sex development ↗ Ovotesticular DSD ↗ Owren's disease ↗ Oxoglutaricaciduria ↗ Oxysterol 7-alpha-hydroxylase deficiency ↗